Back to Search
Start Over
Orbital involvement of Sitosterolemia.
- Source :
-
Orbit (Amsterdam, Netherlands) [Orbit] 2022 Feb; Vol. 41 (1), pp. 118-122. Date of Electronic Publication: 2020 Sep 17. - Publication Year :
- 2022
-
Abstract
- Sitosterolemia is a rare inherited condition in which plant sterols are stored and deposited in the tissues. Described in 1974 by Battacharyya and Connor, it is characterized by tendon and tuberous xanthomas and a propensity to premature coronary atherosclerosis. We present the first reported case of the disease being manifest in the periorbital region. A 44-year-old man presented with a six-month history of swelling below the left eyebrow overlying the orbital rim, but without displacement of the globe. Magnetic resonance imaging identified a soft tissue mass within the orbit, with subsequent biopsy confirming a xanthogranulomatous process consistent with the diagnosis of sitosterolemia. Management of sitosterolemia aims to reduce plasma plant sterol concentrations which subsequently lowers serum cholesterol reducing the xanthomas and atherosclerotic cardiovascular diseases. This report highlights a rare, under-recognised condition (and indeed the first reporting periocular disease), and the potential dangers if misdiagnosed as hypercholesterolemia.
Details
- Language :
- English
- ISSN :
- 1744-5108
- Volume :
- 41
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- Orbit (Amsterdam, Netherlands)
- Publication Type :
- Academic Journal
- Accession number :
- 32942937
- Full Text :
- https://doi.org/10.1080/01676830.2020.1820534